ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability. (3rd May 2016)

• Record Type: Journal Article
• Authors: Koschmann, Carl; Lowenstein, Pedro R.; Castro, Maria G.
• Is Part Of: Molecular & cellular oncology. Volume 3:Number 3(2016)
• Publication Date: 2016-05-03
• Subjects: Chromatin -- histone mutations -- homologous recombination -- NHEJ -- pediatric GBM; Tumors -- Periodicals; Neoplasms; Periodicals; 616.99
• DOI: 10.1080/23723556.2016.1167158
• Languages: English
• ISSNs: 2372-3556

Abstract

ABSTRACT: Alpha thalassemia/mental retardation syndrome X-linked ( ATRX ) is mutated in nearly a third of pediatric glioblastoma (GBM) patients. We developed an animal model of ATRX-deficient GBM. Using this model combined with analysis of multiple human glioma genome-wide datasets, we determined that ATRX mutation leads to genetic instability, impaired non-homologous end joining, and alternate lengthening of telomeres (ALT).